EPOS

European Paediatric Ophthalmological Society

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Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis.

Quinn Shauna ¹, Biswas Susmito ¹, Black Graeme ², Clayton-Smith Jill ², Lloyd Chris ^1
1Manchester Royal Eye Hospital, Oxford Road, Manchester, M13 9WH, England., ²Department of Clinical Genetics, St. Mary's Hospital, Oxford Road,Manchester, M13 9WH, England.

Purpose: To study the skeletal and ocular anomalies of a Caucasian family and to investigate the responsible genetic inheritance. Methods: Three generations underwent systemic and ophthalmic examination. Plain film radiographs of their hands and feet were taken. Chromosome analysis was carried out on the proband. Results: All three generations displayed brachydactyly, and had a variable constellation of ocular anomalies. The proband had Peter's anomaly and coloboma, in the presence of a normal female karyotype. Her son had an isolated coloboma of the iris. Her mother had no ocular abnormalities. Both the proband and her son had a history of recurrent middle ear infections and all were of normal intelligence. Conclusion: This family share skeletal anomalies and exhibit variable developmental ocular anomalies. This is consistent with an autosomal dominant disorder with variable penetrance. Brachydactyly is commonly associated with clinodactyly and abnormal dermatoglyphics, as is seen in this family. It is frequently autosomal dominant and may be either an isolated anomaly or associated with other genetic abnormalities. Peters' anomaly and coloboma are usually thought of as separate entities although recently mutations in the MAF transcription factor have been described in patients with both conditions. Conditions previously described which incorporate ocular and bony limb abnormalities include Peters' Plus syndrome (clinodactyly, cleft lip and palate, mental retardation and autosomal recessive inheritance). Sorsby syndrome is a dominantly inherited combination of bilateral macular colobomas and apical dystrophy of the hands and feet. Michels described a family in which four of six siblings had multiple anterior segment and systemic abnormalities, including brachydactyly and clinodactyly with autosomal recessive inheritance. A case report of a child born of second degree relatives, described the association of leukoma, atrophic iris, brachydactyly and digital hypoplasia. We believe therefore, that this is the first description of a pedigree of an autosomal dominant condition, with variable penetrance encompassing anterior segment anomalies and brachydactyly.